Push for greater awareness of the suppressing disorder, Rett Syndrome

Oct 31, 2021 News

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Kaieteur News –Imagine being stuck in a glass box, in front of your family and friends. You are uncomfortable, hungry, thirsty, sad, lonely and frustrated. Think about that frustration and lack of acknowledgement.

Why can’t they notice your frustration; why are they still smiling and laughing while you’re in discomfort? You scream your requests louder but to no avail. Now, instead of a glass box, imagine it’s in your own body that you are trapped. Imagine waking up every day unable to pull the curtains, brush your teeth or drink your first glass of water. Think about being unable to say good morning to your family and tell them all about your dreams. Imagine being trapped in a world where all your efforts to express yourself are blocked. Your head or tummy hurts, but you cannot ask for relief. Someone is hurting you, but you cannot scream for help. Then imagine seizures, multiple silent seizures, mostly unnoticed. Imagine seeing others living their lives to their full capabilities while you are trapped. That scarcely brushes the surface on the suppressing disorder that is Rett Syndrome.
Rett Syndrome is a rare neurological disability that affects every aspect of an individual’s life – their ability to breathe, speak, walk, eat. Rett Syndrome leads to severe physical impairments and loss of motor skills. The child has a lessened ability to express feelings. According to the Rett Syndrome Research Trust, statistics show that one in every 10,000-12,000 kids are born with Rett. There is a lag in the brain and head growth in a child with Rett Syndrome. They may seem to be growing normally; however, significant symptoms occur between 6 -18 months of a baby’s life. Sometimes, delays in walking abilities; or, they may lose the skill, some may not walk until late childhood or adolescence, and some never can walk independently. Children with Rett Syndrome experience apraxia, seizures and scoliosis, -ranging from non-existent to severe. This disability mostly affects girls. Rett Syndrome is caused by a gene mutation in the MECP2 gene located on the X chromosome. The MECP2 gene contains instructions for producing (encoding) a protein called MeCP2. This protein is essential for normal brain function and other functions in the body.
Rett Syndrome is marked by repetitive hand movements. Other signs and symptoms are: wringing and washing of the hands, difficulty breathing and eating, slowed head growth, loss of eye contact, grinding of the teeth, loss of speech, loss of motor skills, apraxia, silent seizures and gradual losses of the individual’s basic skills.
According to the International Rett Syndrome Association (IRSA), Viennese physician; Andreas Rett first discovered Rett Syndrome in 1954, when he noticed two girls making the same repetitive hand-writing motions.
This disorder is diagnosed based on the symptoms the child depicts. A genetic-based blood test is done to find out whether the condition is caused by a genetic mutation. The disorder is confirmed by the presence of a change in the gene and general observations. There is no known cure and managing its symptoms can be very difficult. Improvements in the diagnosis of Rett Syndrome has, as yet, no parallels in treatment. Medicine can only offer supportive measures; feeding tubes, orthopaedic braces and surgeries, and trials of standard seizure medications, which are often ineffective in Rett Syndrome. Treatment for the disorder is symptomatic, focusing on the management of symptoms, and supportive. Medication may be needed for breathing irregularities and motor difficulties, and antiepileptic drugs may be used to control seizures. Occupational therapy, physiotherapy, and hydrotherapy may prolong mobility. Some children may require special equipment and aids such as braces to arrest scoliosis, splints to modify hand movements, and nutritional programmes. As of 2021, the tunnel is beginning to look shorter and brighter; as clinical treatments are being assessed and researched for gene reversal. “Traditional gene-replacement therapy which involves swapping out the mutated copy of MECP2 for a functional one has been successful in mice, but it’s not obvious how to safely translate that approach for people, “says Matthew Lyst – a researcher in the School of Biological Sciences at the University of Edinburgh in Scotland.
In Guyana, due to the unfamiliarity and rarity of this disability, many people are misdiagnosed or unable to obtain a diagnosis. Apart from financial reasons, diagnosis and treatment are limited and somewhat non-existent in healthcare facilities. To obtain medical aid for a suspected Rett individual, one must be financially capable to be referred to another country’s medical care. I was inspired by my niece, a victim of this disorder. I, along with family members and friends, initiated a non-profitable organisation called Precious Angels Charity. It is our mission to inform and empower all Guyanese through awareness campaigns and activities. We have successfully carried out an awareness walk in 2019 but have been unable to execute walks or fundraising events since the pandemic continues to rage. We aim to assist those affected by this disorder and raise funds that will go towards the development and improvement of research. We aim to provide services; financial aid but also include advocacy, intervention and referrals. We, therefore, rely on the generosity of our community members and businesses.
We hope to receive your support for the sake of the precious angels who are afflicted by this stifling disorder. With your help, we will achieve the financial ability to construct the first Rett Syndrome Clinic in Guyana. October is Rett Syndrome Awareness Month. Purple is the colour and butter-fly is the symbol.
To donate and support, contact us on our social media – Instagram @preciousangelscharity19 and Facebook Precious Angels Charity. Or, call us at 5922259019 or +4407984889602. “No act of kindness, no matter how small, is ever wasted,” – Aesor.
“This article was written Hadiyyah S. Mohamed, a Communication/Journalism student at the Edinburgh Napier University, Scotland, United Kingdom.)

 

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